Hereditary spastic paraplegia 18

rare

A rare, complex type of hereditary spastic paraplegia characterized by progressive spastic paraplegia (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. SPG18 is caused by a mutation in the ERLIN2 gene (8p11.2) encoding the protein, Erlin-2.

Identifiers: MONDO:0012639 Orphanet:209951
Causal genes: ERLIN2
Part of: Complex hereditary spastic paraplegia
Also known as: autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2 · autosomal recessive spastic paraplegia 18 · autosomal recessive spastic paraplegia type 18 · ERLIN2 autosomal recessive complex spastic paraplegia · hereditary spastic paraplegia type 18

Subtypes

All diseases Rare only

Disease

Spastic paraplegia 18a, autosomal dominant MONDO:0957788
Spastic paraplegia 18b, autosomal recessive MONDO:0700309

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